PSEN1

(redirected from presenilin-1)

PSEN1

A gene on chromosome 14q24.3 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, and in linking chromatin to the nuclear membrane. PSEN1 stimulates cell–cell adhesion by associating with the E-cadherin/catenin complex; it cleaves E-cadherin during apoptosis or calcium influx, promoting the disassembly of the E-cadherin/catenin complex and increases the pool of cytoplasmic beta-catenin, thus downregulating Wnt signalling. It may play a role in haematopoiesis.

Molecular pathology
Defects in PSEN1 cause of Alzheimer disease type 3, frontotemporal dementia, cardiomyopathy dilated type 1U, and familial acne inversa type 3.
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References in periodicals archive ?
A[beta] ve Tau birikiminin genetik sebepleri ile ilgili en guclu genetik veriler, amiloid precursor protein (APP), presenilin-1 (PSEN1) veya PSEN-2'deki mutasyonlarla ilgili calismalarindan elde edilmistir.
They are individually regulated by APP , presenilin-1 ( PS1 ), PS2 , and tau protein genes.
Li et al., "A presenilin-1 mutation renders neurons vulnerable to isoflurane toxicity," Anesthesia and Analgesia, vol.
Li, "Curcumin mediates presenilin-1 activity to reduce [beta]-amyloid production in a model of Alzheimer's disease," Pharmacological Reports, vol.
The 5xFAD mouse is a transgenic model of AD carrying five mutations associated with early onset familial Alzheimer's disease (FAD): the K670N/M671L (Swedish), I716V (Florida), and V717I (London) mutations in human amyloid precursor protein (APP) and the M146L and L286V mutations in human presenilin-1 (PS1) [19-22].
Gordon et al., "Progressive, age-related behavioral impairments in transgenic mice carrying both mutant amyloid precursor protein and presenilin-1 transgenes," Brain Research, vol.
Familial AD comprises <5% of cases and is associated with a distinct autosomal genetic mutation associated with the amyloid precursor protein (APP), presenilin-1 (PSEN-1), and presenilin-2 (PSEN-2) [5, 12-18].
Loss of function mutations in the gamma-secretase genes--including presenilin-1, presenilin enhancer-2, and nicastrin--likely play a role (5, 15).
The brain glucose deficit isn't unique to the elderly, or even to patients with AD--it also occurs in those who have a family history of the disease, who carry the APOE4 allele, those with presenilin-1 mutations, and those with insulin resistance and diabetes.
In support of this hypothesis, it has been shown that genetic overexpression of amyloid precursor protein and presenilin-1, or genetic deletion of Ear2, which promotes LC development [104, 105], both modestly impair hippocampal long-term potentiation and spatial memory.
Presenilins are transmembrane proteases that in humans are represented by two homologs, presenilin-1 (PS-1) and presenilin-2 (PS-2), encoded by two gens, PSEN1 and PSEN2, respectively [85].
Three dominant inherited mutations in the genes amyloid precursor protein (APP), presenilin-1 (PS1), and presenilin-2 (PS2), which increase the production of amyloid-beta (A[beta]) peptides, have been linked to EOAD [9, 10].